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High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.
[oculocutaneous albinism]
Oculocutaneous
albinism
(
OCA
)
is
caused
by
mutations
in
six
different
genes
,
and
their
molecular
diagnosis
encompasses
the
search
for
point
mutations
and
intragenic
rearrangements
.
Here
,
we
used
high
-resolution
array-comparative
genome
hybridization
(
CGH
)
to
search
for
rearrangements
across
exons
,
introns
and
regulatory
sequences
of
four
OCA
genes
:
TYR
,
OCA
2
,
TYRP
1
,
and
SLC
45
A
2
.
We
identified
a
total
of
ten
new
deletions
in
TYR
,
OCA
2
,
and
SLC
45
A
2
.
A
complex
rearrangement
of
OCA
2
was
found
in
two
unrelated
patients
.
Whole-genome
sequencing
showed
deletion
of
a
184
-
kb
fragment
(
identical
to
a
deletion
previously
found
in
Polish
patients
)
,
whereby
a
large
portion
of
the
deleted
sequence
was
re
-inserted
after
severe
reshuffling
into
intron
1
of
OCA
2
.
The
high
-resolution
array-
CGH
presented
here
is
a
powerful
tool
to
detect
gene
rearrangements
.
Finally
,
we
review
all
known
deletions
of
the
OCA
1
-
4
genes
reported
so
far
in
the
literature
and
show
that
deletions
or
duplications
account
for
5
.
6
%
of
all
mutations
identified
in
the
OCA
1
-
4
genes
.
Diseases
Validation
Diseases presenting
"and their molecular diagnosis encompasses the search for point mutations and intragenic rearrangements"
symptom
oculocutaneous albinism
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